Assessment of Genetics Knowledge and Skills in Medical Students: Insight for a Clinical Neurogenetics Curriculum

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1 Q 2011 by The International Union of Biochemistry and Molecular Biology BIOCHEMISTRY AND MOLECULAR BIOLOGY EDUCATION Vol. 39, No. 3, pp , 2011 Article Assessment of Genetics Knowledge and Skills in Medical Students: Insight for a Clinical Neurogenetics Curriculum Received for publication, April 23, 2010, and in revised form, November 2, 2010 Phillip L. Pearl, Jennifer M. Pettiford, Susan E. Combs, Ari Heffron, Sean Healton, Alexandra Hovaguimian, and Charles J. Macri From the Department of Neurology, The George Washington University School of Medicine and Health Sciences, Washington, DC, Department of Obstetrics and Gynecology, The George Washington University School of Medicine and Health Sciences, Washington, DC The pace of discovery in biochemistry and genetics and its effect on clinical medicine places new curricular challenges in medical school education. We sought to evaluate students understanding of neurogenetics and its clinical applications to design a pilot curriculum into the clinical neurology clerkship. We utilized a needs assessment and a written examination to evaluate the genetics knowledge of 81 third- and fourth-year medical students. The needs assessment surveyed students self-perceptions of their own understanding of basic and clinically related genetic principles and clinical skills, as well as the most effective educational methods. Medical students reported more competence with basic science learned during the preclinical years than clinical concepts, and they demonstrated relatively low knowledge levels in clinical neurogenetics concepts on the examination, with an average of 29% correct on questions pertaining to genetic counseling compared with 82% correct with regard to inheritance patterns. Common, cross-specialty clinical skills were attained (e.g. internet search, family histories), while at least half of students reported minimal understanding or awareness of key genetics websites (e.g. OMIM) and indications for support group recommendations and genetics referrals. Teaching these more specific genetics skills and concepts needs to be emphasized in the clinical curriculum. Keywords: Medical education, genetics, neurogenetics. INTRODUCTION The explosion of information in biochemistry and genetics and its application in clinical medicine is accompanied by a new urgency for revisions in medical school curricula [1]. The impact of genetics in all specialties, including primary care, is increasing rapidly. Deficiencies in understanding and management of genetic issues amongst practitioners have been documented [2]. The Human Genome Project and the current thrust of individualized medicine based on genomics emphasize the imminent need for an updated genetics curriculum [3]. Neurology in particular has experienced a dramatic increase in information pertaining to genetics. Teaching this material requires reformatting the traditional neurological curriculum, which has traditionally emphasized localization in the nervous system and subsequent characterization of the underlying nature of systemic and neurologic pathology that lead to clinical presentations [4]. In addition, neurology faculty must continue to * To whom correspondence should be addressed. Phillip L. Pearl, MD, Department of Neurology, Children s National Medical Center, 111 Michigan Avenue, Washington, DC Tel.: þ ; Fax: ppearl@cnmc.org. This paper is available on line at provide students with a working knowledge of neurological examination and interpretation skills. In 2004, the Association of American Medical Colleges (AAMC) published core competencies in genetics that should be included in medical education to adequately prepare the general physician [5]. These competencies included attitudes about genetics and genetic disease, knowledge of genetics and its applications in medicine, skills to treat and counsel affected patients and families, and educational strategies to teach these concepts and skills to medical students. A 2007 survey queried genetics course directors and curricular deans at 114 U.S. and Canadian medical schools to gauge the current status of educational programs focusing on genetics, how and when they are taught, and the topical focus of the courses [6]. This showed that the majority of genetics education took place in the first and second year of undergraduate medical education and offered a broad perspective on medical genetics concepts. Only 11% of schools reported that students were offered practical training in the clinical applications of medical genetics. Nearly every school (98%) reported using instructor-led lectures as a primary teaching method. In this study, we sought to gain the student perspective on genetics in medical education. The medical school curriculum at our institution utilizes a traditional DOI /bmb.20489

2 192 BAMBED, Vol. 39, No. 3, pp , 2011 TABLE 1 Results of needs assessment and examination score by clinical topic Self-assessment survey n ¼ 81 None/minimal Basic/proficient Advanced/superior Average % correct Principles of genetic transmission : 8% 37% 56% 82% Autosomal dominant/recessive, X-linked, mitochondrial, pedigrees Phenotypes of genetic diseases : 12% 49% 40% 76% Neurofibromatosis, tuberous sclerosis, fragile X, Huntington s Disease Concepts of trinucleotide repeat disorders : 41% 38% 21% 49% Genetic expansion, premutations, genetic anticipation Genetic testing : 27% 56% 17% 57% Types and uses of tests, implications and risk assessment for family members Genetic counseling : 32% 53% 15% 29% Frequency and prevalence, co-morbidities and sequelae, clinical variability, and outcomes Exam format of two basic science years and 2 years of clinical rotations. The bulk of the genetics curriculum is taught within the first-year biochemistry course. Clinical applications are included during sections of a second-year course, Introduction to Clinical Medicine, which is structured by organ systems without a specific unit devoted to clinical genetics. These courses consist of lecturebased teaching with assigned readings and small group sessions structured as problem-based learning. The neurology clerkship is a 1-month rotation taken during the third or fourth year. We sought to evaluate students needs to design a pilot clinical neurogenetics curriculum, based on their perceived and assessed level of understanding of basic and clinical genetics concepts, clinical skills in genetics, and preferred learning styles, following the guidelines set forth by the 2004 AAMC report [5]. To identify the specific areas of weakness in the existing clinical curriculum, we administered a self-assessment survey and written examination to medical students in the neurology clerkship during an academic year. METHODS A survey and written examination in neurogenetics were administered during the first week of the four-week medical student neurology clerkship. The three-part survey included: 1) a self-assessment of knowledge of basic and clinically related genetics principles, 2) self-assessment of proficiency with clinical skills relating to genetic disorders, and 3) evaluation of teaching tools in learning genetics. Participation was held during the first scheduled weekly didactic session over a 6- month period and was voluntary. Students self-assessed their understanding of basic genetics topics as well as clinically related genetics principles using a Leikert scale from 1 to 5, where 1 ¼ none/minimal, 2 ¼ basic, 3 ¼ proficient, 4 ¼ advanced, and 5 ¼ superior understanding. Basic genetics questions were based on the topics presented in the AAMC report regarding molecular biology of the human genome, and individual topics were grouped into five over-aching categories: mitosis and meiosis, DNA structure and function, RNA structure and function, transcription and translation, and mutations. Clinical genetics principles included genetic transmission, phenotypes of common genetic diseases, concepts of trinucleotide repeats, genetic testing, and genetic counseling. Examples of individual topics are listed by category in Table 1. The data presented represent the average response of all students for all topics within the broader category. Clinical skills were evaluated by self-assessment of competence in specific skills included in the AAMC report [5] using the same five-point scale from minimal to superior, and include these skills: acquisition of a multigenerational family history, indications for genetic testing and counseling, interpretation of genetic tests, discussion of diagnoses with patients and families, access and critical analysis of literature, e.g. Online Mendelian Inheritance in Man (OMIM) database and targeted internet searches. Students evaluated specific teaching tools and formats (lectures, small groups, role play, standardized patients, assigned readings, and problem sets) with regard to educational impact. A 30-question, multiple-choice examination, covering the same five clinically related genetics principles as the survey, was administered after the survey. Students had no access to outside materials or information, but there was no time-limit on the test. Questions were aimed at a basic level of understanding for each topic and were framed in clinical contexts surrounding the most common neurogenetic disorders, including neurofibromatosis, tuberous sclerosis, and fragile X syndrome. Examples of test questions in each of the five clinical genetics topics are provided in Table 2. The curricular objectives were for students to develop a working knowledge of principles of genetic transmission, genetic testing, genetic counseling, and phenotypes of common neurogenetic disorders with specific objectives in trinucleotide repeat disorders. Responses of third versus fourth year students in each category on all assessments were statistically analyzed using the z- test. This educational research project was approved by the George Washington University Institutional Review Board. RESULTS Eighty-one medical students (21 third-year; 60 fourthyear) completed the assessment survey and written examination (31 males, 50 females). No student declined participation. The median age was 27 years (range years). Self-assessment responses on the 5-point scale are reported as minimal (1), basic/ proficient (2 and 3), and advanced/superior (4 and 5) (Table 1; Fig. 1). Basic Genetic Principles For the fundamental principles, over 90% reported at least basic knowledge of topics in mitosis and meiosis,

3 193 TABLE 2 Sample written exam questions Which of the following statements about autosomal dominant inheritance is false? (a) All generations are affected (b) Males and females are equally affected (c) The risk of recurrence is 50% if one parent is affected (d) The risk of recurrence is 100% if both parents are affected (e) Unaffected siblings are usually not carriers Clinical features including café au lait macules, Lisch nodules, sphenoid dysplasia or pseudoarthrosis and plexiform neurofibroma are most consistent with: (a) Tuberous sclerosis 1 (b) Tuberous sclerosis 2 (c) Neurofibromatosis 1 (d) Neurofibromatosis 2 (e) None of the above Genetic anticipation may result in all of the following except: (a) Earlier onset of disease (b) Increasing severity of disease with subsequent generations (c) Identification of families at greater risk of transmitting inherited disease (d) All of the above All of the following are potential advantages of genetic testing except: (a) If a familial mutation is excluded, an individual may feel relief (b) If a familial mutation is found, improved risk assessment for patient and family members is possible (c) Knowledge of mutation status may influence lifestyle and reproductive decision-making (d) If a mutation is identified in one individual, additional family members should be treated empirically (e) For those family members who carry the familial mutation, options for management may include increased surveillance, prophylactic surgery and/or medical therapy The leading cause of morbidity and mortality in tuberous sclerosis is: (a) Facial angiofibromas (b) Renal cell carcinoma (c) Central nervous system tumors (d) Cardiac rhabdomyomas DNA structure and function (including gene and chromosome organization), RNA structure and function (including transcription and gene expression), translation and protein synthesis, and frameshift, missense, and nonsense mutations. Over 95% percent of students were able to define the terms genotype, phenotype, homozygote, heterozygote, dominant, and recessive, and over 85% were able to define the terms allele, locus, and karyotype. There were no significant differences in selfassessment between the third and fourth-year cohorts except in understanding mutations, where 67% of thirdyears claimed advanced knowledge compared with only 32% of fourth-years (p < 0.05). Clinically Related Genetic Principles Five clinically related genetic principles were addressed in both the self-assessment and the written examination: principles of genetic transmission, phenotypes of common genetic disorders, concepts of trinucleotide repeat disorders, genetic testing, and genetic counseling. The mean overall correct score on the written examination was 54%. There were no significant differences between the test performance in each category between the thirdand fourth-year students (p > 0.05). Principles of genetic transmission were both the highest rated on the self-assessment and the highest scored on the examination. An average of over 50% of students reported an advanced or superior understanding of these concepts, and the average scores for inheritance questions was 82% correct (Table 1). Characteristics of common neurogenetic diseases, including neurofibromatosis, tuberous sclerosis, fragile X syndrome and Huntington s disease, were assessed on both the survey and the written exam where only 12% self-assessed minimal understanding and less than 25% of related exam questions were answered incorrectly. Of all five areas, the highest percentage of students FIG. 1.Competence level for clinical skills.

4 194 BAMBED, Vol. 39, No. 3, pp , 2011 reported minimal understanding of the genetic and biochemical principles underlying trinucleotide repeat disorders, consistent with a less than 50% correct average on the exam (Table 1). Less than 20% of students reported advanced or superior knowledge in genetic testing and counseling, although the examination score on genetic testing questions was relatively stronger at 57% versus only 29% correct on items pertaining to genetic counseling (Table 1). Clinical Skills The vast majority (95%) of students reported basic to superior facility in detailed internet search (Fig. 1). Approximately half had at least basic familiarity with the OMIM website. The majority (80%) had at least basic skills drafting and interpreting family pedigrees, and 64% reported basic to superior competence in discussion of a genetic diagnosis. Approximately half of students cited no to minimal knowledge regarding appropriate referrals to genetics specialty services or support groups. Learning Tools Students ranked lectures and readings as optimal for learning genetics (94%), whereas smaller proportions ranked problem sets and small group discussions (82% and 78%, respectively) as recommended teaching modalities. In contrast, less than half ranked role play (33%) and standardized patients (44%) as having positive educational impact. DISCUSSION From the discovery of DNA to the Human Genome Project, remarkable advancements in genetics in the past 50 years have revolutionized clinical medicine and require all healthcare providers to be competent in the principles and clinical applications of human genetics. Medical students require a broad working knowledge of genetics to provide more accurate and up-to-date care for their future practices. This knowledge should include an understanding of disease risk for adult-onset disorders such as hypertension, diabetes, stroke, and osteoporosis; family history and cancer risks; and preconception and prenatal risks [7]. Limited clinical experience, fragmented medical school curricula, rapidly changing knowledge about genetics, and the misconception of genetics as pertaining only to rare disorders has caused many practitioners to feel inadequately prepared to diagnose or make appropriate referrals concerning genetic disorders and offer genetic counseling [8, 9]. For these reasons, more emphasis has been placed on the inclusion of genetics in medical school curricula, with particular attention paid toward vertical integration throughout the 4-year programs in American medical schools [10]. The students evaluated in this study reported a strong knowledge base of basic genetics concepts but low familiarity with clinically related genetics concepts and skills in both the self-assessment and examination. In contrast to a strong and lasting understanding of genetic and biochemical principles most likely learned and reiterated in high school, undergraduate, and pre-clinical medical courses, the clinical extension of these principles receive little emphasis at any level of study. Specifically, students strengths reside in foundational concepts and the clinical presentation of major genetic diseases, with a gap in correlating the clinical implications of the genetic defect. For example, students were able to identify and describe the clinical phenotypes of common trinucleotide repeat disorders such as Fragile X and Huntington disease, but demonstrated lower understanding of gene expansion or the clinical relevance of genetic anticipation or premutations that affect clinical outcome. While these results are anticipated based on material taught in the preclinical years, they emphasize the importance of integrating clinical genetics during the clerkship years. Less than half of 114 medical schools in a published survey incorporate genetics into the third and fourth year curricula [6]. Medical students must receive training in genetic counseling to adequately advise patients and families about the implications of genetic mutations and diagnoses. Only 11% of US medical schools surveyed in responded that they provided any practical training in medical genetics [6]. In contrast to common, crossspecialty clinical skills, such as internet searches and family histories, a minority of students had competence in key counseling tools such as indications for genetic referrals and recommendations for support groups. Other skills such as discussing pedigrees and genetic testing have important implications for families and parents in terms of reproductive planning, genetic testing of relatives, and prenatal testing. In addition, in this vast and rapidly advancing field, students need advanced proficiency with tools such as OMIM to seek up-to-date information on diagnosis and therapy. As 75% of our participants were fourth year students who already completed at least 1 year of clinical clerkships, this signifies the importance of teaching these concepts during the clinical years. A genetics curriculum model should focus on extending students understanding of the biochemical basis of genetic diseases to the clinical knowledge and skills that have implications for management, treatment, testing, and counseling. The content of the course should emphasize genetics concepts most commonly seen in neurologic practice and those in which students demonstrated weaker understanding and skills. Limitations to our study include restriction to a single medical school, specificity related to neurogenetics, and the validity of self-assessment instruments. This is a preliminary study which helps inform curricular change. A future direction is to design and implement such a pilot curriculum, built on the analysis presented here, and evaluate outcomes using an additional post-test as well as student surveys of various clinical teaching methods. Incorporation of genetics teaching in core clerkships, e.g. neurology, medicine, pediatrics, obstetric-gynecology, surgery, is proposed as the mechanism to do this. Separate electives in genetics would be difficult to implement for all medical students and may not have the same impact in

5 195 generalizing and applying the information within the broad scope of the patient s health. While medical ethics questions are notoriously difficult to write because of controversy in selecting a consistently correct answer, incorporation of the unique role of medical ethics into clinical genetics curricula is another important future step. The student responses in the educational planning section will help guide the development of a new curriculum. Lectures, readings, and problem sets were ranked in this study as superior teaching methods to standardized patients and role play. In accordance with the student preferences demonstrated here, as much as 98% of genetics education in surveyed medical schools relies on instructor lectures [6]. However, a studentbased study at Mount Sinai School of Medicine that also used self-assessment and external evaluation showed that students who spent only two sessions with a standardized patient with a genetic diagnosis felt more competent in their clinical skills, including drawing a pedigree as well as risk assessment and counseling. Over 90% of students also reported that the experiences improved their confidence in clinical genetics interactions and allowed them to identify areas for improvement [11]. A clinical genetics curriculum should aim to provide medical students with an adequate foundation for the inclusion of genetics in clinical practice and the ability to adapt to its new developments. Medicine is becoming increasingly genetics-centered and molecularly based, and these clinical concepts and skills in genetics are not only relevant for neurology but also are germane to all areas of medical practice. REFERENCES [1] J. Stephenson (1997) As discoveries unfold, a new urgency to bring genetic literacy to physicians, JAMA. 278, [2] K. J. Hofman, E. S. Tambor, G. A. Chase, G. Geller, R. R. Faden, N. A. Holtzman (1993) Physicians knowledge of genetics and genetic tests, Acad. Med. 68, [3] Hofmann E (2001) What can medicine learn from the human DNA sequence? Biochem 66, [4] D. J. Gelb, C. H. Gunderson, K. A. Henry, H. S. Kirshner, R. F. Jozefowicz (2002) The neurology clerkship core curriculum, Neurology. 58, [5] B. R. Korf (2004) Medical School Objectives Project, Report IV. Contemporary Issues in Medicine: Genetics Education. American Association of Medical Colleges, Washington, DC. [6] V. C. Thurston, P. S. Wales, M. A. Bell, L. Torbeck, J. J. Brokaw (2007) The current status of medical genetics instruction in US and Canadian medical schools, Acad. Med. 82, [7] C. J. Macri, N. D. Gaba, L. M. Sitzer, L. Freese, S. L. Bathgate, J. W. Larsen, Jr. (2005) Implementation and evaluation of a genetics curriculum to improve obstetrician-gynecologist residents knowledge and skills in genetic diagnosis and counseling, Am. J. Obstet. Gynecol. 193, [8] B. R. Korf (2002) Integration of genetics into clinical teaching in medical school education, Genet. Med. 4, 33S 38S. [9] S. Suther, P. Goodson (2003) Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature, Genet Med. 5, [10] D. M. Robinson, C. T. Fong (2008) Genetics in medical school curriculum: A look at the University of Rochester School of Medicine and Dentistry, J. Zhejiang. Univ. Sci. B. 9, [11] M. M. McGovern, M. Johnston, K. Brown, R. Zinberg, D. Cohen (2006) Use of standardized patients in, undergraduate medical genetics education, Teach. Learn. Med. 18,